E122V (p.Glu122Val) variant of CCND3 (G1/S-specific cyclin-D3)
E122V (p.Glu122Val) in CCND3 (G1/S-specific cyclin-D3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E122V (p.Glu122Val) variant details
- p.Glu122Val
- ESP rs147998619
- ExAC rs147998619
- TOPMed rs147998619
- gnomAD rs147998619
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.32
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available